ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.681C>A (p.His227Gln)

dbSNP: rs142984073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001536568 SCV001753346 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV003146214 SCV003831082 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2020-03-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040308 SCV005667268 uncertain significance Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 2023-12-22 criteria provided, single submitter clinical testing

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